title: High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT.
abstract: BACKGROUND
  Congenital anomalies of the kidney and urinary tract (CAKUT) commonly cause chronic kidney disease in children. While most CAKUT cases are sporadic, observed familial clustering suggests that the pathogenesis is influenced by genetic factors.
  
  
  METHODS
  The purpose of the present study is to determine the frequency of the kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT. A total of 218 index patients and their families followed at an academic hospital in Ankara, Turkey, were enrolled in the study.
  
  
  RESULTS
  Family histories revealed at least one other member with a known kidney or urinary tract disease in 50% and CAKUT in 22.9% of the families. All asymptomatic first-degree relatives of 180 index patients were screened for kidney and urinary tract anomalies using ultrasound. New anomalies were diagnosed in 116 asymptomatic first-degree relatives (23%) in 87 families (48.3%). When family histories and ultrasound findings of 180 index patients were evaluated together, 129 first-degree relatives in 92 families (51.1%) had CAKUT.
  
  
  CONCLUSIONS
  This study suggests that genetic mechanisms might be very important in the pathogenesis of apparently sporadic CAKUT. Identification of the underlying gene mutations will provide further insights into the knowledge of the kidney and urinary tract development and pathogenesis of CAKUT.
authors.affiliation: Division of Pediatric Nephrology, Ankara University School of Medicine, 06100, Ankara, Turkey.
authors.forename: Burcu
authors.initials: B
authors.lastname: Bulum
authors.forename: Z Birsin
authors.initials: ZB
authors.lastname: Ozçakar
authors.forename: Evren
authors.initials: E
authors.lastname: Ustüner
authors.forename: Ebru
authors.initials: E
authors.lastname: Düşünceli
authors.forename: Aslı
authors.initials: A
authors.lastname: Kavaz
authors.forename: Duygu
authors.initials: D
authors.lastname: Duman
authors.forename: Katherina
authors.initials: K
authors.lastname: Walz
authors.forename: Suat
authors.initials: S
authors.lastname: Fitoz
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
authors.forename: Fatoş
authors.initials: F
authors.lastname: Yalçınkaya
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D016000:Cluster Analysis; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D010290:Parents; D035781:Siblings; D014421:Turkey / Q000453:epidemiology; D014463:Ultrasonography; D014551:Urinary Tract / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014564:Urogenital Abnormalities; D014570:Urologic Diseases / Q000235:genetics; D014718:Vesico-Ureteral Reflux / Q000235:genetics* / Q000473:pathology; D055815:Young Adult